Results 71 to 80 of about 1,773 (167)

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source

Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations

Case Reports in Medicine, 2010
Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway.
Mukesh Tanwar, Tanuj Dada, Rima Dada
doaj   +1 more source

Use of the Aurolab Aqueous Drainage Implant as a buckling element in pediatric retinal detachment with a preexisting glaucoma drainage device

American Journal of Ophthalmology Case Reports
Purpose: To describe a novel technique for repair of rhegmatogenous retinal detachment in an eye with a previous non-valved glaucoma drainage device, the Aurolab Aqueous Drainage Implant (AADI).
Deeksha Katoch, Sabia Handa, Simar Rajan Singh, Uday Tekchandani, Ramandeep Singh, Surinder Singh Pandav, Sushmita Kaushik   +6 more
doaj   +1 more source

Unilateral Buphthalmos [PDF]

Proceedings of the Royal Society of Medicine, 1927
openaire   +2 more sources

Chronic Glaucoma with Buphthalmos [PDF]

Proceedings of the Royal Society of Medicine, 1932
openaire   +2 more sources

Conventional probe trabeculotomy versus microcatheter-assisted 360° trabeculotomy (PIRATE) in childhood glaucoma—study protocol for a randomized controlled trial

Trials
Background To compare the success and safety of microcatheter-assisted 360° trabeculotomy (MCAT) with conventional probe trabeculotomy in a large, heterogeneous cohort of children with primary or secondary glaucoma.
Julia V. Stingl, Irene M. Schmidtmann, Markus Schepers, Alexander K. Schuster, Jasmin Rezapour, Anna M. Welzel, Angi L. Mendoza-Moreira, Heike Elflein, Anne Ehrlich, Claudia Wolf, Michael Hopp, Ingeborg Stalmans, Sophie Lemmens, Thomas Dietlein, Silvia Schrittenlocher, Alexandra Lappas, Claudia Schuart, Hagen Thieme, Esther M. Hoffmann   +18 more
doaj   +1 more source

Buphthalmos

, 2014
Yuranga Weerakkody, Ciléin Kearns, David McArdle   +2 more
openaire   +1 more source

Transient Buphthalmos [PDF]

Proceedings of the Royal Society of Medicine, 1936
openaire   +1 more source

Unilateral primary congenital glaucoma presenting with buphthalmos in a child. [PDF]

BMJ Case Rep
Ghate GV, Borghare P, Mundhe SP.
europepmc   +1 more source

Buphthalmos in trisomy 13 [PDF]

Eye, 2004
R Bunting, J Leitch
openaire   +1 more source